Diseases [C] » Respiratory Tract Diseases [C08] » Respiration Disorders » Hoarseness » Lipoid Proteinosis of Urbach and Wiethe
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Skin Diseases, Genetic » Lipoid Proteinosis of Urbach and Wiethe
Description
An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN. MeSH
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